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- W4206031469 abstract "Several varieties of muscular dystrophy can be distinguished on clinical, genetic, morphologic, and physiologic grounds. The classification includes Duchenne and Becker muscular dystrophies, both X-linked disorders; facioscapulohumeral muscular dystrophy, which is autosomal dominant; and limb-girdle muscular dystrophy, generally autosomal recessive. Duchenne muscular dystrophy (DMD), which occurs in approximately 1 in 3500 live male births, has no recognizable signs or symptoms at birth. However, markedly elevated serum creatine kinase always is demonstrable, even at birth. A molecular diagnosis can be made at any time in the patient's lifetime by demonstrating the defect in the dystrophin gene, the absence of dystrophin in a muscle biopsy, and the characteristic morphologic abnormalities." @default.
- W4206031469 created "2022-01-26" @default.
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- W4206031469 date "1995-11-01" @default.
- W4206031469 modified "2023-09-27" @default.
- W4206031469 title "Muscular Dystrophy" @default.
- W4206031469 doi "https://doi.org/10.1542/pir.16.11.437" @default.
- W4206031469 hasPublicationYear "1995" @default.
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